The missing link between genetic association and regulatory function
Noah J Connally; Sumaiya Nazeen; Daniel Lee; Huwenbo Shi; J Stamatoyannopoulos; Sung Chun; Chris Cotsapas; Christopher A. Cassa · 2022 · eLife
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract
-linked genes. However, despite the availability of gene expression and epigenomic datasets, few variant-to-gene links have emerged. It is unclear whether these sparse results are due to limitations in available data and methods, or to deficiencies in the underlying assumed model. To better distinguish between these possibilities, we identified 220 gene-trait pairs in which protein-coding variants influence a complex trait or its Mendelian cognate. Despite the presence of expression quantitative trait loci near most GWAS associations, by applying a gene-based approach we found limited evidence
Abstract by Noah J Connally; Sumaiya Nazeen; Daniel Lee; Huwenbo Shi; J Stamatoyannopoulos; Sung Chun; Chris Cotsapas; Christopher A. Cassa, eLife (2022) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.7554/elife.74970